Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. For issues, for which there was limited information available in international literature, we collaborated with national support groups and the participants of a syndrome specific international conference to obtain further information. Here, we discuss the resultant consensus, including the clinical definition of PTHS and a molecular diagnostic pathway. Recommendations for managing particular health problems such as dysregulated respiration are provided. We emphasize the need for integration of care for physical and behavioral issues. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimization of diagnostics and care.

In a cohort of 337 patients with subarachnoid hemorrhage (SAH), we investigated the relationship between blood glucose levels, baseline characteristics, and outcome by means of Student's t-test and multivariate logistic regression. The mean glucose levels on admission and from day 1 to 10 were significantly higher in patients with poor condition on admission and in patients with poor outcome. In a multivariate analysis, glucose level on admission was not an independent predictor of outcome. Hyperglycemia may be a link in the association between poor condition on admission and poor outcome.

Background: A congenital forearm pseudarthrosis is a rare condition and is strongly associated with neurofibromatosis type 1. Several surgical techniques are described in the literature, but the most optimal treatment strategy remains unclear. This systematic review aims to develop a treatment algorithm that may aid in clinical decision making. Methods: The PROSPERO registration number for this study was CRD42018099602 and adheres to the PRISMA guidelines for systematic reviews. Embase, MEDLINE, Cochrane Central, Web of Science, and Google Scholar databases were searched for published studies reporting on congenital forearm pseudarthrosis not related to other underlying pathologies like bacterial infection or fibrous dysplasia. Results were not restricted by date or study type, only English literature was allowed. Studies were assessed for quality using the critical appraisal checklist for case reports from the Joanna Briggs Institute. Patient characteristics, underlying disease, type of surgery, union rate, and functional outcome were extracted from included studies. Results: Of 829 studies identified, 47 were included in this review (17 case series and 30 case reports, a total of 84 cases). A onebone forearm procedure showed highest union rates (92%), however, it results in loss of forearm rotation. Free vascularized fibula grafting showed high union rates (87%) and was related to good functional outcome of elbow flexion and forearm rotations. Other procedures showed disappointing outcomes. Conclusions: Congenital forearm pseudarthrosis is best treated with a free vascularized fibula grafting, a one-bone forearm procedure should be used as a salvage procedure. Evidence extracted from the case reports was sufficient to generate a treatment algorithm to be used in clinical pediatric practice. Level of Evidence: Level IV-therapeutic.

In clinically stable hips, delayed ultrasound between three and five months is regarded as safe and could prevent for overtreatment of mild dysplastic hips.